Back in Charm City – Part 2

He had us at the first swipe of his fountain pen. Moments earlier we heard him across the hall on the phone. It was a rather terse conversation in which someone was getting a deserved dressing down for not following his orders. Literally a case of life or death. When he entered the room he was a little bit (okay quite a lot) older than we anticipated. He sat down at a small desk and patted his pockets in search of something. Samantha and I exchanged uneasy glances.

Once he located his fountain pen, unscrewed the cap, and began to speak, we were certain that we were exactly where we needed to be. Dr. Shapiro exudes expertise. He talked to us about Samantha’s bone density scan explaining that overall it was lower than normal but not quite to the alarming level yet. Questions were asked about previous fractures, genetic testing, family history and overall health. When he asked Samantha about her surgeries, she explained that she had her right radial head removed several summers ago. His response, “I don’t need to hear any more.” Yet, he continued to ask many, many questions. I felt like I was back in school trying to come up with the right answers. We discussed hearing loss, dental issues, and scoliosis. He gave Sam an exam to ascertain her overall mobility. Then he sat down at the computer and with a few clicks pulled up an article he wrote that he wanted us to read. It was an article about OI Type V – common presentations include radial head dislocation, long bone bowing, calcification of interosseous membrane, and hyperplastic callus formation. Samantha has 3 out of 4. (She has the calcification between her ulna and radius and always wondered what it was on the X-rays. She does not have hyperplastic calluses as far as we know.)

Dr. Shapiro ordered blood work to determine calcium and vitamin D levels. He also suggested DNA testing. In OI Types I-IV there is a collagen production issue. In Type V, there is a gene mutation. He suggested that I call our insurance company to determine coverage. While I was on the phone with Aetna, he stood there answering questions for me and eventually just took my cell phone and handled the call himself. I had mentioned that in eye exams Sam’s eye pressure tended to be a little on the high side. He said there are institutions like Duke and University of Illinois that are looking at correlations between OI and glaucoma. While Sam was off getting blood drawn, he called the ophthalmologist and explained to her what kind of testing Samantha needed the next time we came in. He also put in calls to the orthopedist we had seen the day before and Baylor School of Medicine who would be processing the DNA genetic testing. He stepped out for a minute explaining that he needed to “go upstairs” and that he would return shortly. Less than ten minutes later he was back with a copy of the article he had shared for us to take home.

We have another appointment scheduled in early May. Sam is going to have a infusion of Reclast, an osteoporosis drug. This drug has proven beneficial in children in improving bone density. At Sam’s ripe old age of 18, the efficacy starts to go down but with no real risk, it is worth trying. Unfortunately we weren’t offered this choice when she was younger.

All in all, I think that Dr. Shapiro spent about two hours with us. I have never felt such collaboration between doctor, nurse, patient and parent. One of his final comments was how important and helpful it will be for Sam to know exactly what type of OI she is dealing with as she gets older. We thanked him profusely as our heads were swimming in information. I am sure there are details that I am leaving out because there was so so much said throughout the morning. Sam’s spirit literally lifted as we left that office. I think a lot of her stress has been replaced with information and doubt replaced with hope. What a tremendous opportunity.

Dr. Shapiro is what Sam deems a “real man of science”. We left him with something which I am sure he will puzzle over before we see him again. Sam’s OI is considered relatively mild (even with 20+ fractures in her past). Her hip protrusia doesn’t really fit the profile. I have no doubt that he will be looking for more answers and causes in the days and months to come.

What a fantastic feeling it is when you finally get a doctor who has knowledge, intelligence, and the ability to spend the time necessary to talk to you! I so hope this is going to be a great relationship for Sam – and I’m so glad that some of her stress has been lifted by getting some answers, and maybe feeling like she’s in the right hands now! So hopeful for you all!